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Carcinoma
Exostosin1 as a novel prognostic and predictive biomarker for squamous cell lung carcinoma: A study based on bioinformatics analysis.
Diabetes Mellitus
Lack of replication of common EXT2 gene variants with susceptibility to type 2 diabetes in Lebanese Arabs.
Diabetes Mellitus, Type 2
Lack of replication of common EXT2 gene variants with susceptibility to type 2 diabetes in Lebanese Arabs.
Exostoses
Heparan sulfate deficiency leads to hypertrophic chondrocytes by increasing bone morphogenetic protein signaling.
Exostoses
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.
Exostoses
Structural analysis of glycosaminoglycans in animals bearing mutations in sugarless, sulfateless, and tout-velu. Drosophila homologues of vertebrate genes encoding glycosaminoglycan biosynthetic enzymes.
Exostoses, Multiple Hereditary
Case Report of the positive exostosin-1 without B-cell lymphoma-2 gene expression of giant cell tumor lesion in hereditary multiple exostosis.
Exostoses, Multiple Hereditary
Correlation between mutated genes and forearm deformity in patients with multiple osteochondroma.
Exostoses, Multiple Hereditary
Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members.
Exostoses, Multiple Hereditary
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.
Exostoses, Multiple Hereditary
Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation.
Exostoses, Multiple Hereditary
Heparan sulfate deficiency leads to hypertrophic chondrocytes by increasing bone morphogenetic protein signaling.
Exostoses, Multiple Hereditary
Identification and functional characterization of the human EXT1 promoter region.
Exostoses, Multiple Hereditary
Intraosseous atypical chondroid tumor or chondrosarcoma grade 1 in patients with multiple osteochondromas.
Exostoses, Multiple Hereditary
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
Exostoses, Multiple Hereditary
Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management.
Exostoses, Multiple Hereditary
Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas.
Exostoses, Multiple Hereditary
Novel exostosin-2 mutation identified in a Chinese family with hereditary multiple osteochondroma.
Exostoses, Multiple Hereditary
Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas.
Exostoses, Multiple Hereditary
Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.
Giant Cell Tumors
Case Report of the positive exostosin-1 without B-cell lymphoma-2 gene expression of giant cell tumor lesion in hereditary multiple exostosis.
Infections
Enterovirus 71 uses cell surface heparan sulfate glycosaminoglycan as an attachment receptor.
Intellectual Disability
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.
Neoplasms
Case Report of the positive exostosin-1 without B-cell lymphoma-2 gene expression of giant cell tumor lesion in hereditary multiple exostosis.
Neoplasms
Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members.
Neoplasms
Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells.
Neoplasms
Increased EXT1 gene copy number correlates with increased mRNA level predicts short disease-free survival in hepatocellular carcinoma without vascular invasion.
Neoplasms
Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management.
Neoplasms
Structural analysis of glycosaminoglycans in Drosophila and Caenorhabditis elegans and demonstration that tout-velu, a Drosophila gene related to EXT tumor suppressors, affects heparan sulfate in vivo.
Neoplasms
Tout-velu is a Drosophila homologue of the putative tumour suppressor EXT-1 and is needed for Hh diffusion.
Seizures
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.
Seizures
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.
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metabolism
the enzymes is involved in heparan sulfate biosynthesis. EXT1, NDST1, and NDST2 differentially regulate heparan sulfate biosynthesis in human tooth germ
malfunction
effect of heterozygous mutations in heparan sulfate elongation genes EXT1 and EXT2 on endothelial function in vitro as well as in vivo. Silencing of microvascular endothelial cell EXT1 and EXT2 under flow led to significant upregulation of endothelial nitric oxide synthesis and phospho-endothelial nitric oxide synthesis protein expression. Brachial artery flow-mediated dilation is significantly increased in hereditary multiple exostoses (HME) patients. In humans, heterozygous loss of function mutation in EXT1 and EXT2 are known to be involved in the development of HME syndrome, a disorder associated with bony tumor formation. In these humans, the loss-of-function mutations lead to alterations in the structure of tissue and plasma heparan sulfate composition, phenotype, overview
malfunction
phenotype of four patients showing clinical seizures-scoliosis-macrocephaly syndrome with seizures and macrocephaly due to decreased EXT2 expression and mutations M87R and R95C. SSM syndrome is characterised by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction. Phenotype, overview
malfunction
Ext1 knock-down reduces heparan sulfate, and increases chondrogenic markers and proteoglycan accumulation. Ext1 knock-down reduces active Wnt/beta-catenin signaling
malfunction
screening and identifying the gene mutation of EXT1 associated with multiple exostosis and the expression in tumor tissues
physiological function
-
in patients with hereditary multiple exostoses, functional loss of EXT1 results in exostoses (osteochondromas), but inactivation of both copies of the gene (germline mutation plus loss of the remaining wild-type allele) is not required for development of the bone lesions. No reported association between EXT1 abnormalities and renal disease. Deficiency of heparan sulfate and perlecan, together with accumulation of collagens, in the matrix of EXT1-associated osteochondromas
physiological function
heparan sulfate elongation genes EXT1 and EXT2 are involved in heparan sulfate elongation and in maintaining endothelial homeostasis, presumably via increased nitric oxide bioavailability
physiological function
key enzyme contributing to the generation of heparan sulfate chains. EXT1, with tumour suppressor properties, is involved in the initiation and polymerisation of the growing heparan sulfate chain. The study may suggest that no association exists between EXT1 and multiple sclerosis
physiological function
key enzymes contributing to the generation of heparan sulfate chains. EXT1, with documented tumour suppressor properties, is involved in the initiation and polymerisation of the growing heparan sulfate chain
physiological function
the enzyme is involved in heparan sulfate biosynthesis
physiological function
the enzyme is required for heparan sulfate chain elongation in heparan sulfate-proteoglycan biosynthesis. EXT1 affects chondrogenic differentiation of precursor cells, in part via changes in the activity of Wnt/beta-catenin signaling. Wnt/beta-catenin signaling controls Ext1 expression, suggesting a regulatory loop between EXT1 and Wnt/beta-catenin signaling during chondrogenesis
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C333R
naturally occuring mutation in hereditary multiple exostoses syndrome
L462W
naturally occuring mutation in hereditary multiple exostoses syndrome
L46F
naturally occuring mutation in hereditary multiple exostoses syndrome
M87R
naturally occuring mutation from a patient with clinical seizures-scoliosis-macrocephaly syndrome
N288K
naturally occuring mutation in hereditary multiple exostoses syndrome
R227D
naturally occuring mutation in hereditary multiple exostoses syndrome
R340H
naturally occuring mutation in hereditary multiple exostoses syndrome
R95C
naturally occuring mutation from a patient with clinical seizures-scoliosis-macrocephaly syndrome
S344F
naturally occuring mutation in hereditary multiple exostoses syndrome
S478L
naturally occuring mutation in hereditary multiple exostoses syndrome
V68G
naturally occuring mutation in hereditary multiple exostoses syndrome
additional information
in vitro EXT1 silencing, suppressed with siRNA, in microvascular endothelial cells under laminar flow
additional information
in vitro EXT1 silencing, suppressed with siRNA, in microvascular endothelial cells under laminar flow
additional information
in vitro EXT2 silencing, suppressed with siRNA, in microvascular endothelial cells under laminar flow
additional information
in vitro EXT2 silencing, suppressed with siRNA, in microvascular endothelial cells under laminar flow
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Kitagawa, H.; Egusa, N.; Tamura, J.I.; Kusche-Gullberg, M.; Lindahl, U.; Sugahara, K.
rib-2, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes encodes a novel alpha-1,4-N-acetylglucosaminyltransferase involved in the biosynthetic initiation and elongation of heparan sulfate
J. Biol. Chem.
276
4834-4838
2001
Caenorhabditis elegans, Homo sapiens
brenda
Wei, G.; Bai, X.; Gabb, M.M.G.; Bame, K.J.; Koshy, T.I.; Spear, P.G.; Esko, J.D.
Location of the glucuronosyltransferase domain in the heparan sulfate copolymerase EXT1 by analysis of Chinese hamster ovary cell mutants
J. Biol. Chem.
275
27733-27740
2000
Cricetinae, Homo sapiens, Mus musculus
brenda
Kim, B.T.; Kitagawa, H.; Tamura, J.I.; Saito, T.; Kusche-Gullberg, M.; Lindahl, U.; Sugahara, K.
Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha-1,4-N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/heparin biosynthesis
Proc. Natl. Acad. Sci. USA
98
7176-7181
2001
Homo sapiens
brenda
Wuyts, W.; van Hul, W.
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes
Hum. Mutat.
15
220-227
2000
Homo sapiens
brenda
Busse, M.; Kusche-Gullberg, M.
In vitro polymerization of heparan sulfate backbone by the EXT proteins
J. Biol. Chem.
278
41333-41337
2003
Homo sapiens
brenda
McCormick, C.; Duncan, G.; Goutsos, K.T.; Tufaro, F.
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heapran sulfate
Proc. Natl. Acad. Sci. USA
97
668-673
2000
Bos taurus, Homo sapiens
brenda
Hecht, J.T.; Hayes, E.; Haynes, R.; Cole, W.G.; Long, R.J.; Farach-Carson, M.C.; Carson, D.D.
Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes
Differentiation
73
212-221
2005
Homo sapiens (Q16394), Homo sapiens (Q93063)
brenda
Roberts, I.S.; Gleadle, J.M.
Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation
J. Am. Soc. Nephrol.
19
450-453
2008
Homo sapiens
brenda
Mooij, H.L.; Cabrales, P.; Bernelot Moens, S.J.; Xu, D.; Udayappan, S.D.; Tsai, A.G.; van der Sande, M.A.; de Groot, E.; Intaglietta, M.; Kastelein, J.J.; Dallinga-Thie, G.M.; Esko, J.D.; Stroes, E.S.; Nieuwdorp, M.
Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function
J. Am. Heart Assoc.
3
e001274
2014
Homo sapiens (Q16394), Homo sapiens (Q93063), Mus musculus (P70428), Mus musculus (P97464)
brenda
Farhan, S.M.; Wang, J.; Robinson, J.F.; Prasad, A.N.; Rupar, C.A.; Siu, V.M.; Siu, V.M.; Hegele, R.A.
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses
J. Med. Genet.
52
666-675
2015
Homo sapiens (Q93063), Homo sapiens
brenda
Wu, Z.; Wang, Y.; Wang, J.; Chen, Y.; Guo, Y.
The role of EXT1 gene mutation and its high expression of calcitonin gene-related peptide in the development of multiple exostosis
Biochem. Biophys. Res. Commun.
505
959-965
2018
Homo sapiens (Q16394)
brenda
Sembajwe, L.; Katta, K.; Gronning, M.; Kusche-Gullberg, M.
The exostosin family of glycosyltransferases MRNA expression profiles and heparan sulphate structure in human breast carcinoma cell lines
Biosci. Rep.
38
1-12
2018
Homo sapiens (Q16394), Homo sapiens (Q93063)
brenda
Kero, D.; Bilandzija, T.; Arapovic, L.; Vukojevic, K.; Saraga-Babic, M.
Syndecans and enzymes involved in heparan sulfate biosynthesis and degradation are differentially expressed during human dontogenesis
Front. Physiol.
9
732
2018
Homo sapiens (Q16394)
brenda
Okolicsanyi, R.K.; Bluhm, J.; Miller, C.; Griffiths, L.R.; Haupt, L.M.
An investigation of genetic polymorphisms in heparan sulfate proteoglycan core proteins and key modification enzymes in an Australian Caucasian multiple sclerosis population
Hum. Genomics
14
18
2020
Homo sapiens (Q16394)
brenda
Ushakov, V.; Tsidulko, A.; De La Bourdonnaye, G.; Kazanskaya, G.; Volkov, A.; Kiselev, R.; Kobozev, V.; Kostromskaya, D.; Gaytan, A.; Krivoshapkin, A.; Aidagulova, S.; Grigorieva, E.
Heparan sulfate biosynthetic system is inhibited in human glioma due to EXT1/2 and HS6ST1/2 down-regulation
Int. J. Mol. Sci.
18
2301
2017
Homo sapiens (Q16394), Homo sapiens (Q93063)
brenda
Wang, X.; Cornelis, F.M.F.; Lories, R.J.; Monteagudo, S.
Exostosin-1 enhances canonical Wnt signaling activity during chondrogenic differentiation
Osteoarthritis Cartilage
27
1702-1710
2019
Homo sapiens (Q16394), Homo sapiens
brenda